Intrinsic factor deficiency
Other Names for this Disease
- Pernicious anemia, congenital, due to defect of intrinsic factor
- Congenital pernicious anemia due to defect of intrinsic factor
- Intrinsic factor, congenital deficiency of
- Congenital pernicious anemia
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pernicious anemia and neurological abnormalities. Most affected people develop signs and symptoms of the condition before age 5 years which may include failure to thrive and symptoms related to anemia (i.e. fatigue, pale skin, etc). Without early diagnosis and treatment, nervous system damage may occur which can be associated with confusion; depression; and numbness or tingling in the hands and/or feet. Intrinsic factor deficiency is caused by changes (mutations) in the GIF gene and is inherited in an autosomal recessive manner. Treatment generally consists of vitamin B12 injections.Intrinsic factor deficiency is a rare condition that is characterized by
Last updated: 1/19/2016
- Paul Schick, MD. Pernicious Anemia. Medscape Reference. August 2015; http://emedicine.medscape.com/article/204930-overview.
- Congenital intrinsic factor deficiency. Orphanet. September 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332.
- INTRINSIC FACTOR DEFICIENCY. OMIM. May 2014; http://www.omim.org/entry/261000.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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